Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	58499
Gene name	Zinc finger protein 462
Gene symbol	ZNF462
Synonyms (NCBI Gene)	WSKAZFPIPZfp462
Chromosome	9
Chromosome location	9q31.2
Summary	The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding diff

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs562767308	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1060499549	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1060499550	TG>A	Pathogenic	Coding sequence variant, frameshift variant
rs1060499551	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1176008720	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, intron variant
rs1554703226	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554703536	->AA	Pathogenic	Coding sequence variant, stop gained
rs1564106503	CCT>TGGTG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588062809	C>T	Pathogenic	Stop gained, coding sequence variant
rs1588063241	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1588064794	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588065447	CCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588067098	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588070867	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1588073071	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1588136019	->G	Likely-pathogenic	Frameshift variant, coding sequence variant

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044512	hsa-miR-320a	CLASH	23622248
MIRT038241	hsa-miR-330-5p	CLASH	23622248
MIRT714762	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT714761	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT714760	hsa-miR-129-5p	HITS-CLIP	19536157
MIRT714762	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT714761	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT714760	hsa-miR-129-5p	HITS-CLIP	19536157
MIRT1525649	hsa-miR-1208	CLIP-seq
MIRT1525650	hsa-miR-1272	CLIP-seq
MIRT1525651	hsa-miR-1297	CLIP-seq
MIRT1525652	hsa-miR-1470	CLIP-seq
MIRT1525653	hsa-miR-26a	CLIP-seq
MIRT1525654	hsa-miR-26b	CLIP-seq
MIRT1525655	hsa-miR-3156-3p	CLIP-seq
MIRT1525656	hsa-miR-3194-5p	CLIP-seq
MIRT1525657	hsa-miR-4287	CLIP-seq
MIRT1525658	hsa-miR-4290	CLIP-seq
MIRT1525659	hsa-miR-4301	CLIP-seq
MIRT1525660	hsa-miR-4464	CLIP-seq
MIRT1525661	hsa-miR-4465	CLIP-seq
MIRT1525662	hsa-miR-4667-3p	CLIP-seq
MIRT1525663	hsa-miR-4685-3p	CLIP-seq
MIRT1525664	hsa-miR-4687-5p	CLIP-seq
MIRT1525665	hsa-miR-4690-3p	CLIP-seq
MIRT1525666	hsa-miR-4699-5p	CLIP-seq
MIRT1525667	hsa-miR-4748	CLIP-seq
MIRT1525668	hsa-miR-532-3p	CLIP-seq
MIRT2158879	hsa-miR-1825	CLIP-seq
MIRT2158880	hsa-miR-342-3p	CLIP-seq
MIRT2158881	hsa-miR-3680	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT2158883	hsa-miR-4775	CLIP-seq
MIRT2158884	hsa-miR-4798-3p	CLIP-seq
MIRT1525650	hsa-miR-1272	CLIP-seq
MIRT2378254	hsa-miR-140-3p	CLIP-seq
MIRT2378255	hsa-miR-2115	CLIP-seq
MIRT2378256	hsa-miR-3065-5p	CLIP-seq
MIRT2158880	hsa-miR-342-3p	CLIP-seq
MIRT2158881	hsa-miR-3680	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT1525666	hsa-miR-4699-5p	CLIP-seq
MIRT2378257	hsa-miR-4738-3p	CLIP-seq
MIRT2158884	hsa-miR-4798-3p	CLIP-seq
MIRT2378258	hsa-miR-516a-3p	CLIP-seq
MIRT2378259	hsa-miR-587	CLIP-seq
MIRT1525652	hsa-miR-1470	CLIP-seq
MIRT2158879	hsa-miR-1825	CLIP-seq
MIRT2670578	hsa-miR-1910	CLIP-seq
MIRT2670579	hsa-miR-3120-5p	CLIP-seq
MIRT2670580	hsa-miR-3121-3p	CLIP-seq
MIRT1525655	hsa-miR-3156-3p	CLIP-seq
MIRT1525656	hsa-miR-3194-5p	CLIP-seq
MIRT2670581	hsa-miR-3647-3p	CLIP-seq
MIRT2670582	hsa-miR-375	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT2670583	hsa-miR-4273	CLIP-seq
MIRT1525657	hsa-miR-4287	CLIP-seq
MIRT1525658	hsa-miR-4290	CLIP-seq
MIRT1525659	hsa-miR-4301	CLIP-seq
MIRT2670584	hsa-miR-4445	CLIP-seq
MIRT2670585	hsa-miR-455-3p	CLIP-seq
MIRT2670586	hsa-miR-4652-3p	CLIP-seq
MIRT1525662	hsa-miR-4667-3p	CLIP-seq
MIRT2670587	hsa-miR-4677-5p	CLIP-seq
MIRT1525663	hsa-miR-4685-3p	CLIP-seq
MIRT1525664	hsa-miR-4687-5p	CLIP-seq
MIRT1525665	hsa-miR-4690-3p	CLIP-seq
MIRT2670588	hsa-miR-4753-3p	CLIP-seq
MIRT2670589	hsa-miR-520f	CLIP-seq
MIRT1525668	hsa-miR-532-3p	CLIP-seq
MIRT2670590	hsa-miR-646	CLIP-seq
MIRT2670591	hsa-miR-942	CLIP-seq
MIRT1525650	hsa-miR-1272	CLIP-seq
MIRT1525652	hsa-miR-1470	CLIP-seq
MIRT2158879	hsa-miR-1825	CLIP-seq
MIRT2670578	hsa-miR-1910	CLIP-seq
MIRT2670579	hsa-miR-3120-5p	CLIP-seq
MIRT2670580	hsa-miR-3121-3p	CLIP-seq
MIRT1525655	hsa-miR-3156-3p	CLIP-seq
MIRT1525656	hsa-miR-3194-5p	CLIP-seq
MIRT2670581	hsa-miR-3647-3p	CLIP-seq
MIRT2670582	hsa-miR-375	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT2670583	hsa-miR-4273	CLIP-seq
MIRT1525657	hsa-miR-4287	CLIP-seq
MIRT1525658	hsa-miR-4290	CLIP-seq
MIRT1525659	hsa-miR-4301	CLIP-seq
MIRT2670584	hsa-miR-4445	CLIP-seq
MIRT2670585	hsa-miR-455-3p	CLIP-seq
MIRT2670586	hsa-miR-4652-3p	CLIP-seq
MIRT1525662	hsa-miR-4667-3p	CLIP-seq
MIRT2670587	hsa-miR-4677-5p	CLIP-seq
MIRT1525663	hsa-miR-4685-3p	CLIP-seq
MIRT1525664	hsa-miR-4687-5p	CLIP-seq
MIRT1525665	hsa-miR-4690-3p	CLIP-seq
MIRT1525666	hsa-miR-4699-5p	CLIP-seq
MIRT2378257	hsa-miR-4738-3p	CLIP-seq
MIRT2670588	hsa-miR-4753-3p	CLIP-seq
MIRT2670589	hsa-miR-520f	CLIP-seq
MIRT1525668	hsa-miR-532-3p	CLIP-seq
MIRT2670590	hsa-miR-646	CLIP-seq
MIRT2670591	hsa-miR-942	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	27705803, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
617371	21684	ENSG00000148143

Q96JM2

Protein name

Zinc finger protein 462 (Zinc finger PBX1-interacting protein) (ZFPIP)

Protein function

Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4,

PDB

1X6F

Family and domains

Sequence

MEVLQCDGCDFRAPSYEDLKAHIQDVHTAFLQPTDVAEDNVNELRCGSVNASNQTEVEFS
SIKDEFAIAEDLSGQNATSLGTGGYYGHSPGYYGQHIAANPKPTNKFFQCKFCVRYFRSK
NLLIEHTRKVHGAQAEGSSSGPPVPGSLNYNIMMHEGFGKVFSCQFCTYKSPRRARIIKH
QKMYHKNNLKETTAPPPAPAPMPDPVVPPVSLQDPCKELPAEVVERSILESMVKPLTKSR
GNFCCEWCSYQTPRRERWCDHMMKKHRSMVKILSSLRQQQEGTNLPDVPNKSAPSPTSNS
TYLTMNAASREIPNTTVSNFRGSMGNSIMRPNSSASKFSPMSYPQMKPKSPHNSGLVNLT
ERSRYGMTDMTNSSADLETNSMLNDSSSDEELNEIDSENGLSAMDHQTSGLSAEQLMGSD
GNKLLETKGIPFRRFMNRFQCPFCPFLTMHRRSISRHIENIHLSGKTAVYKCDECPFTCK
SSLKLGAHKQCHTGTTSDWDAVNSQSESISSSLNEGVVSYESSSINGRKSGVMLDPLQQQ
QPPQPPPPPPPPPPSQPQPLQQPQPPQLQPPHQVPPQPQTQPPPTQQPQPPTQAAPLHPY
KCTMCNYSTTTLKGLRVHQQHKHSFCDNLPKFEGQPSSLPLENETDSHPSSSNTVKKSQT
SILGLSSKNNFVAKASRKLANDFPLDLSPVKKRTRIDEIASNLQSKINQTKQQEDAVINV
EDDEEEEEDNEVEIEVELDREEEPTEPIIEVPTSFSAQQIWVRDTSEPQKEPNFRNITHD
YNATNGAEIELTLSEDEEDYYGSSTNLKDHQVSNTALLNTQTPIYGTEHNSENTDFGDSG
RLYYCKHCDFNNKSARSVSTHYQRMHPYIKFSFRYILDPNDHSAVYRCLECYIDYTNFED
LQQHYGEHHPEAMNVLNFDHSDLIYRCRFCSYTSPNVRSLMPHYQRMHPTVKINNAMIFS
SYVVEQQEGLNTESQTLREILNSAPKNMATSTPVARGGGLPATFNKNTPKTFTPECENQK
DPLVNTVVVYDCDVCSFASPNMHSVLVHYQKKHPEEKASYFRIQKTMRMVSVDRGSALSQ
LSFEVGAPMSPKMSNMGSPPPPQPPPPDLSTELYYCKHCSYSNRSVVGVLVHYQKRHPEI
KVTAKYIRQAPPTAAMMRGVEGPQGSPRPPAPIQQLNRSSSERDGPPVENEMFFCQHCDY
GNRTVKGVLIHYQKKHRDFKANADVIRQHTATIRSLCDRNQKKPASCVLVSPSNLERDKT
KLRALKCRQCSYTSPYFYALRKHIKKDHPALKATVTSIMRWAFLDGLIEAGYHCEWCIYS
HTEPNGLLLHYQRRHPEHYVDYTYMATKLWAGPDPSPPSLTMPAEAKTYRCRDCVFEAVS
IWDITNHYQAFHPWAMNGDESVLLDIIKEKDAVEKPILSSEELAGPVNCENSIPTPFPEQ
EAECPEDARLSPEKSLQLASANPAISSTPYQCTVCQSEYNNLHGLLTHYGKKHPGMKVKA
ADFAQDIDINPGAVYKCRHCPYINTRIHGVLTHYQKRHPSIKVTAEDFVHDVEQSADISQ
NDVEETSRIFKQGYGAYRCKLCPYTHGTLEKLKIHYEKYHNQPEFDVFSQSPPKLPVPLE
PEMTTEVSPSQVSITEEEVGEEPVSTSHFSTSHLVSHTVFRCQLCKYFCSTRKGIARHYR
IKHNNVRAQPEGKNNLFKCALCAYTNPIRKGLAAHYQKRHDIDAYYTHCLAASRTISDKP
NKVIIPSPPKDDSPQLSEELRRAVEKKKCSLCSFQSFSKKGIVSHYMKRHPGVFPKKQHA
SKLGGYFTAVYADEHEKPTLMEEEERGNFEKAEVEGEAQEIEWLPFRCIKCFKLSFSTAE
LLCMHYTDHHSRDLKRDFIILGNGPRLQNSTYQCKHCDSKLQSTAELTSHLNIHNEEFQK
RAKRQERRKQLLSKQKYADGAFADFKQERPFGHLEEVPKIKERKVVGYKCKFCVEVHPTL
RAICNHLRKHVQYGNVPAVSAAVKGLRSHERSHLALAMFTREDKYSCQYCSFVSAFRHNL
DRHMQTHHGHHKPFRCKLCSFKSSYNSRLKTHILKAHAGEHAYKCSWCSFSTMTISQLKE
HSLKVHGKALTLPRPRIVSLLSSHSHHSSQKATPAEEVEDSNDSSYSEPPDVQQQLNHYQ
SAALARNNSRVSPVPLSGAAAGTEQKTEAVLHCEFCEFSSGYIQSIRRHYRDKHGGKKLF
KCKDCSFYTGFKSAFTMHVEAGHSAVPEEGPKDLRCPLCLYHTKYKRNMIDHIVLHREER
VVPIEVCRSKLSKYLQGVVFRCDKCTFTCSSDESLQQHIEKHNELKPYKCQLCYYETKHT
EELDSHLRDEHKVSRNFELVGRVNLDQLEQMKEKMESSSSDDEDKEEEMNSKAEDRELMR
FSDHGAALNTEKRFPCEFCGRAFSQGSEWERHVLRHGMALNDTKQVSREEIHPKEIMENS
VKMPSIEEKEDDEAIGIDFSLKNETVAICVVTADKSLLENAEAKKE

Sequence length

2506

Interactions

View interactions

165

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Craniosynostosis syndrome	Pathogenic	rs1060499549, rs1060499551, rs1060499550	RCV000449793 RCV000450382 RCV000451535
Intellectual disability, autosomal dominant	Pathogenic	rs1060499549, rs1060499551, rs1060499550	RCV000449793 RCV000450382 RCV000451535
Premature ovarian failure	Likely pathogenic	rs1469441260	RCV001270215
Weiss-Kruszka syndrome	Likely pathogenic; Pathogenic	rs2132039347, rs2131488835, rs2131431481, rs2131465180, rs2131454461, rs2538803152, rs2538809532, rs866842287, rs2538787233, rs2538759626, rs2538791396, rs2538720827, rs2538778615, rs996375589, rs1830597071 View all (20 more)	RCV001528175 RCV001706868 RCV001728020 RCV001843844 RCV002052106 RCV002289156 RCV002463418 RCV002466385 RCV002776563 RCV003127439 RCV003148253 RCV003223486 RCV003226109 RCV003314533 RCV003886625 RCV003448886 RCV003448887 RCV003448888 RCV003448889 RCV003448892 RCV003886357 RCV003983801 RCV004796865 RCV004595132 RCV000853085 RCV000853086 RCV000853087 RCV000853088 RCV000853089 RCV000853090 RCV000853091 RCV000986128 RCV001028032 RCV001254182 RCV004998779
ZNF462-related disorder	Pathogenic; Likely pathogenic	rs866842287, rs1830597071, rs2538729329	RCV004750747 RCV003404672 RCV003899871

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs144568759	RCV005902508
Cleft lip	Uncertain significance	rs746021945	RCV004797636
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs201035963	RCV004558070
Melanoma	Likely benign	rs116985783	RCV005927602
See cases	Uncertain significance	rs1830279895	RCV002253014
Uterine corpus endometrial carcinoma	Benign	rs144568759	RCV005902509

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Corpus Callosum	Associate	28513610, 31361404, 39501256
Autism Spectrum Disorder	Associate	31361404
Congenital Abnormalities	Associate	31361404
Craniofacial Abnormalities	Associate	28513610
Craniosynostoses	Associate	28513610, 31361404
Cysts	Associate	39501256
Developmental Disabilities	Associate	28513610, 31361404, 33909591, 36461789
Dwarfism Pituitary	Associate	33975400
Empty Sella Syndrome	Associate	33975400
Facial Pain	Associate	33909591
Hearing Loss Sensorineural	Associate	33909591
Heart Defects Congenital	Associate	31361404
Intellectual Disability	Associate	36461789
Jackson Weiss syndrome	Associate	33909591, 33975400, 36461789, 39501256
Lung Neoplasms	Associate	29059373
Muscle Hypotonia	Associate	31361404
Noonan Syndrome	Associate	31361404
Ovarian Neoplasms	Associate	35735060
Ptosis Hereditary Congenital 2	Associate	28513610, 31361404

ZNF462 (zinc finger protein 462)